Background: Leber's hereditary optic neuropathy (LHON) is
the most common maternally inherited disease linked to mitochondrial DNA (mtDNA). The
patients present with subacute asymmetric bilateral vision loss. It is a rare disease
that typically affects young adults–men more than women–and is a relatively common cause
of blindness. The majority (more than 95%) of patients have one of three mtDNA point
mutations: m.14484T→C, m.3460G→A, or m.11778G→A.The hallmark of hereditary optic
neuropathies determined by mitochondrial dysfunction is the vulnerability and
degeneration of retinal ganglion cells (RGC). Due to its low prevalence in the
population (1:50,000), this diagnosis is often overlooked, misdiagnosed, and mismanaged,
which may exacerbate symptoms. Objective: The aim of the paper is to present the
complexity and challenge of making the correct diagnosis in patients with progressive
vision loss. Case report: A 42-year-old patient, female, complains of a bilateral
decrease in visual acuity after surgery performed under general anaesthesia. The visual
acuity value at the first ophthalmological examination was 0.8 bilaterally and could not
be corrected. The OCT finding was within the ‘'reference
values'', while the visual field finding showed non-specific changes.
Further examinations by a neurologist and psychiatrist do not lead to a correct
diagnosis. After a long time, genetic testing reveals a genetic mutation and a diagnosis
of LHON is made. Conclusion: Although still uncommon, the presentation of LHON in
middle-aged women is possible and should be considered as one of the differential
diagnoses in a patient when painless vision loss occurs. [Med Arch 2025; 79(3.000):
241-248]

Leber's hereditary optic neuropathy, multiple sclerosis, depression, glaucoma, retinal ganglion cell layer